ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825753667
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000153173
RCV001140455
ClinVar Variation:
167016
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124451.1:p.Ala201Val
CA179983
NM_001130979.2:c.602C>T